Publications by authors named "H Reutter"
Background: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 ( in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.
Methods: Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies.
Article Synopsis
- - Anorectal malformations (ARM) are rare congenital defects occurring in about 3.32 per 10,000 pregnancies, involving a range of issues from mild anal canal displacement to severe fusion of the anorectum, vagina, and urethra.
- - The developmental basis of ARM stems from improper septation of the hindgut during early pregnancy, with most cases being non-syndromic and lacking clear genetic causes.
- - Surgical correction, primarily through posterior sagittal anorectoplasty since 1982, is common, but there is a need for further improvements in surgery outcomes, prenatal detection, and understanding the psychosocial impacts on patients.
Background: Serum lactate levels are used as biomarkers for perinatal asphyxia, while their value for outcome prediction in preterm infants is uncertain. It was the aim of this observational study to determine the association of the first postnatal serum-lactate levels on day 1 of life and short-term outcome in preterm infants less than 29 gestational weeks.
Methods: We analysed data in a population-based cohort of German Neonatal Network (GNN) preterm infants with available first postnatal lactate levels enrolled at 22-28 weeks of gestational age (GA) between 1st of April 2009 and 31st December 2020.
Isl1 has been described as an embryonic master control gene expressed in the pericloacal mesenchyme. Deletion of Isl1 from the genital mesenchyme in mice leads to an ectopic urethral opening and epispadias-like phenotype. Using genome wide association methods, we identified ISL1 as the key susceptibility gene for classic bladder exstrophy (CBE), comprising epispadias and exstrophy of the urinary bladder.
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